HLSC 2462U Lecture Notes - Lecture 4: Achondroplasia, Consanguinity, Y Chromosome
Document Summary
One pair of sex chromosomes xx or xy. X linked disorders affect males more prevalently. Genotype: combining of 2 alleles, composition of genes at a given locus: person with type a blood can have genotype of aa or ao. Phenotype: physical attributes from result of genotype. Locus: location where a gene resides on a chromosome. Allele: different forms of a gene, one allele from each parent: polymorphism: locus that has 2+ alleles that occur often (eye colour) Allele effects of one allele can mask the other (dominant) No carriers for a dominant disorder, they either have it or they don"t. Disorder only has to be present on one gene for it to be expressed. Autosomal only affects the first 22 chromosomes. Recurrence risk: probability of an individual to obtain a disease, one parent affected by autosomal dominant disorder, the other is recessive, 50% chance: no more or less risk for each child, they each have the same risk.
